Disease: Brachycephaly
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
CDH11 P55287 cadherin 11 1.00 0.512 0.808
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
EFNB1 P98172 ephrin B1 Signaling 0.93 0.561 0.769
ESCO2 Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 3.2E-07 0.581 0.615
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
HSPA9 P38646 heat shock protein family A (Hsp70) member 9 0.97 0.502 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
INTU Q9ULD6 inturned planar cell polarity protein 7.7E-10 0.555 0.769
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MGAT2 Q10469 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Enzyme 3.4E-02 0.650 0.577